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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PELP1 Gene

protein-coding   GIFtS: 53
GCID: GC17M004574

Proline, Glutamate And Leucine Rich Protein 1

(Previous names: proline, glutamic acid and leucine rich protein 1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Proline, Glutamate And Leucine Rich Protein 11 2     P1602
Modulator Of Non-Genomic Activity Of Estrogen Receptor2 3     Proline And Glutamic Acid Rich Nuclear Protein2
Transcription Factor HMX32 3     Proline-, Glutamic Acid- And Leucine-Rich Protein 12
MNAR2 3     HMX33
Proline, Glutamic Acid And Leucine Rich Protein 11     

External Ids:    HGNC: 301341   Entrez Gene: 270432   Ensembl: ENSG000001414567   OMIM: 6094555   UniProtKB: Q8IZL83   

Export aliases for PELP1 gene to outside databases

Previous GC identifers: GC17M005003 GC17M004920 GC17M004525 GC17M004781 GC17M004521


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PELP1 Gene:
This gene encodes a transcription factor which coactivates transcription of estrogen receptor responsive genes and
corepresses genes activated by other hormone receptors or sequence-specific transcription factors. Expression of
this gene is regulated by both members of the estrogen receptor family. This gene may be involved in the
progression of several types of cancer. Alternative splicing results in multiple transcript variants. (provided
by RefSeq, May 2013)

GeneCards Summary for PELP1 Gene: 
PELP1 (proline, glutamate and leucine rich protein 1) is a protein-coding gene. Diseases associated with PELP1 include pasteurellosis, and mn1, and among its related super-pathways are GPCR Pathway. GO annotations related to this gene include protein binding.

UniProtKB/Swiss-Prot: PELP1_HUMAN, Q8IZL8
Function: Coactivator of estrogen receptor-mediated transcription and a corepressor of other nuclear hormone
receptors and sequence-specific transcription factors. Plays a role in estrogen receptor (ER) genomic activity
when present in the nuclear compartment by activating the ER target genes in a hormonal stimulation dependent
manner. Can facilitate ER non-genomic signaling via SRC and PI3K interaction in the cytosol. Plays a role in
E2-mediated cell cycle progression by interacting with RB1. May have important functional implications in
ER/growth factor cross-talk. Interacts with several growth factor signaling components including EGFR and HRS.
Involved in nuclear receptor signaling via its interaction with AR and NR3C1. May promote tumorigenesis via its
interaction with and modulation of several oncogenes including SRC, PI3K, STAT3 and EGFR. Plays a role in cancer
cell metastasis via its ability to modulate E2-mediated cytoskeleton changes and cell migration via its
interaction with SRC and PI3K. Functions as the key stabilizing component of the Five Friends of Methylated CHTOP
(5FMC) complex; the 5FMC complex is recruited to ZNF148 by methylated CHTOP, leading to desumoylation of ZNF148
and subsequent transactivation of ZNF148 target genes




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010718.16  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PELP1 gene promoter:
         COUP-TF1   COUP-TF   AP-1   ATF-2   COUP   c-Jun   HNF-4alpha1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPELP1 promoter sequence
   Search SABiosciences Chromatin IP Primers for PELP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PELP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17p13.2   Ensembl cytogenetic band:  17p13.2   HGNC cytogenetic band: 17p13.2

PELP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PELP1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M004574:  view genomic region     (about GC identifiers)

Start:
4,574,679 bp from pter      End:
4,607,632 bp from pter
Size:
32,954 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PELP1_HUMAN, Q8IZL8 (See protein sequence)
Recommended Name: Proline-, glutamic acid- and leucine-rich protein 1  
Size: 1130 amino acids; 119700 Da
Subunit: Interacts with HRS, RXRA, SUMO2, HDAC2, RB1 and STAT3. Interacts with PI3K, SRC and EGFR in cytoplasm.
Interacts with ESR1 and ESR2 and this interaction is enhanced by 17-beta-estradiol. Interacts with CREBBP, EP300,
AR and NR3C1 in a ligand-dependent manner. Forms two complexes in the presence of 17-beta-estradiol; one with SRC
and ESR1 and another with LCK and ESR1. Interacts with histone H1 and H3 with a greater affinity for H1.
Component of some MLL1/MLL complex, at least composed of the core components KMT2A/MLL1, ASH2L, HCFC1/HCF1, WDR5
and RBBP5, as well as the facultative components BAP18, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1,
MGA, KAT8/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and
TEX10. Core component of the 5FMC complex, at least composed of PELP1, LAS1L, TEX10, WDR18 and SENP3; the complex
interacts with methylated CHTOP and ZNF148. Interacts with NOL9
Subcellular location: Nucleus, nucleoplasm (By similarity). Nucleus. Cytoplasm. Note=Mainly found in the
nucleoplasm, with low levels detected in the cytoplasm (By similarity). Also found associated with the plasma
membrane. Mainly in cytoplasm in a subset of breast tumors. Localization is widely deregulated in endometrial
cancers with predominantly cytoplasm localization in high-grade endometrial tumors
Sequence caution: Sequence=AAC17708.2; Type=Frameshift; Positions=656, 672;
Secondary accessions: O15450 Q5EGN3 Q6NTE6 Q96FT1 Q9BU60
Alternative splicing: 2 isoforms:  Q8IZL8-1   Q8IZL8-2   

Explore the universe of human proteins at neXtProt for PELP1: NX_Q8IZL8

Explore proteomics data for PELP1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8IZL8

  • PELP1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PELP1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001265170.1  NP_055204.3  

    ENSEMBL proteins: 
     ENSP00000461625   ENSP00000460300   ENSP00000461380   ENSP00000460959   ENSP00000461419  
     ENSP00000458985   ENSP00000301396   ENSP00000269230   ENSP00000416231  

    Human Recombinant Protein Products for PELP1: 
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PELP1 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0071339MLL1 complex IDA15960975

    PELP1 for ontologies           About GeneDecksing



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    LSBio Antibodies in human, mouse, rat for PELP1 

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    GenScript Custom Assay Services for PELP1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PELP1 
    Cloud-Clone Corp. CLIAs for PELP1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR012980 Uncharacterised_NUC202

    Graphical View of Domain Structure for InterPro Entry Q8IZL8

    ProtoNet protein and cluster: Q8IZL8

    2 Blocks protein domains:
    IPB012583 NUC201
    IPB012980 Protein of unknown function NUC202


    UniProtKB/Swiss-Prot: PELP1_HUMAN, Q8IZL8
    Domain: The Glu-rich region mediates histones interaction
    Domain: The Leu-Xaa-Xaa-Leu-Leu (LXXLL) motifs are required for the association with nuclear receptor ESR1


    PELP1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PELP1_HUMAN, Q8IZL8
    Function: Coactivator of estrogen receptor-mediated transcription and a corepressor of other nuclear hormone
    receptors and sequence-specific transcription factors. Plays a role in estrogen receptor (ER) genomic activity
    when present in the nuclear compartment by activating the ER target genes in a hormonal stimulation dependent
    manner. Can facilitate ER non-genomic signaling via SRC and PI3K interaction in the cytosol. Plays a role in
    E2-mediated cell cycle progression by interacting with RB1. May have important functional implications in
    ER/growth factor cross-talk. Interacts with several growth factor signaling components including EGFR and HRS.
    Involved in nuclear receptor signaling via its interaction with AR and NR3C1. May promote tumorigenesis via its
    interaction with and modulation of several oncogenes including SRC, PI3K, STAT3 and EGFR. Plays a role in cancer
    cell metastasis via its ability to modulate E2-mediated cytoskeleton changes and cell migration via its
    interaction with SRC and PI3K. Functions as the key stabilizing component of the Five Friends of Methylated CHTOP
    (5FMC) complex; the 5FMC complex is recruited to ZNF148 by methylated CHTOP, leading to desumoylation of ZNF148
    and subsequent transactivation of ZNF148 target genes

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005488binding ----
    GO:0005515protein binding IPI16169070
         
    PELP1 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI phenotypic allele for Pelp1 (no phenotypes)

    PELP1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for PELP1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PELP1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PELP1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PELP1 

    miRNA
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    hsa-miR-4261
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    Inhib. RNA
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    Gene Editing
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PELP1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PELP1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1GPCR Pathway
    Estrogen Pathway0.55
    2Nongenotropic Androgen signaling
    Nongenotropic Androgen signaling
    3MNAR-PELP1 and Estrogen Receptor Interaction
    MNAR-PELP1 and Estrogen Receptor Interaction
    4Coregulation of Androgen receptor activity
    Coregulation of Androgen receptor activity
    5Plasma membrane estrogen receptor signaling
    Plasma membrane estrogen receptor signaling

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for PELP1
        Estrogen Pathway
    MNAR-PELP1 and Estrogen Receptor Interaction

    3 BioSystems Pathways for PELP1
        Plasma membrane estrogen receptor signaling
    Nongenotropic Androgen signaling
    Coregulation of Androgen receptor activity


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PELP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/746 Interacting proteins for PELP1 (Q8IZL81, 2, 3 ENSP000003013964) via UniProtKB, MINT, STRING, and/or I2D (see all 746)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    H3F3AP842432, 3, ENSP000003557784MINT-7903569 MINT-7903490 MINT-7903524 MINT-7903607 MINT-7903554 MINT-7903511 MINT-7903461 MINT-7903594 MINT-7903394 MINT-7903444 MINT-7903429 I2D: score=1 STRING: ENSP00000355778
    H3F3BP842432, 3MINT-7903569 MINT-7903490 MINT-7903524 MINT-7903607 MINT-7903554 MINT-7903511 MINT-7903461 MINT-7903594 MINT-7903394 MINT-7903444 MINT-7903429 I2D: score=1 
    WDR18Q9BV382, 3, ENSP000002512894MINT-8150033 MINT-8151622 MINT-6488791 MINT-8150073 MINT-7945693 MINT-8149961 MINT-8150055 MINT-8149946 MINT-8149937 I2D: score=1 STRING: ENSP00000251289
    HIST1H4AP628053, ENSP000003529804I2D: score=1 STRING: ENSP00000352980
    HIST1H4BP628053I2D: score=1 
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--

    PELP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PELP1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PELP1

    10/14 Novoseek inferred chemical compound relationships for PELP1 gene (see all 14)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    estrogen 72.2 73 15374949 (4), 19276281 (3), 11481323 (3), 15087130 (3) (see all 33)
    proline 64.2 22 11481323 (2), 17505058 (2), 18079323 (1), 16574651 (1) (see all 16)
    steroid 61.3 27 11301320 (2), 10598588 (1), 14722092 (1), 14766010 (1) (see all 23)
    testosterone 48.7 14 11551963 (3), 10601285 (2), 12588987 (1), 19828458 (1) (see all 6)
    retinoic acid 46.5 6 16574651 (2), 10598588 (1), 11010967 (1), 12149266 (1)
    tamoxifen 43.8 8 10986290 (2), 16505095 (2), 19470742 (2), 17804729 (1)
    glutamate 43.1 21 11481323 (2), 17505058 (2), 16574651 (1), 16270355 (1) (see all 15)
    arginine 19.9 4 11050077 (1), 10381882 (1), 11850402 (1), 15731352 (1)
    retinoid 15.4 1 15731352 (1)
    estradiol 12.2 1 11477071 (1)

    Search CenterWatch for drugs/clinical trials and news about PELP1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PELP1 gene (2 alternative transcripts): 
    NM_001278241.1  NM_014389.2  

    Unigene Cluster for PELP1:

    Proline, glutamate and leucine rich protein 1
    Hs.744899  [show with all ESTs]
    Unigene Representative Sequence: NM_014389
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000574876 ENST00000572293 ENST00000573523 ENST00000575329 ENST00000573242
    ENST00000575534 ENST00000570571 ENST00000573506 ENST00000570387 ENST00000575101
    ENST00000571170 ENST00000570823 ENST00000571347 ENST00000301396(uc002fyi.4 uc010vsf.2)
    ENST00000269230 ENST00000436683
    miRNA
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    Additional mRNA sequence: 

    AF547989.1 AK226056.1 AK291163.1 AK293838.1 AK299084.1 AY882602.1 BC002875.2 BC010457.2 
    BC039131.1 BC069058.1 NR_046388.1 U88154.1 

    15 DOTS entries:

    DT.412511  DT.100785487  DT.86847447  DT.92435904  DT.100785485  DT.92435903  DT.95307121  DT.100785484 
    DT.121012373  DT.121012377  DT.95180350  DT.100030239  DT.100894725  DT.91968294  DT.97849079 

    24/230 AceView cDNA sequences (see all 230):

    BQ276258 BC002875 BI861165 BE672131 BU508444 BQ064120 BU859236 BQ055821 
    BQ065499 BU557352 BU556489 BQ057517 AI380911 BQ062310 BQ947481 CO245939 
    BU553642 BQ056877 BM549730 BQ055683 CB216298 BC069058 BQ057088 AI446734 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PELP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGGCCGACT
    PELP1 Expression
    About this image


    See PELP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PELP1

    SOURCE GeneReport for Unigene cluster: Hs.744899

    UniProtKB/Swiss-Prot: PELP1_HUMAN, Q8IZL8
    Tissue specificity: Isoform 2 is expressed in breast cancer cell lines. Isoform 1 is widely expressed

        SABiosciences Expression via Pathway-Focused PCR Array including PELP1: 
              Estrogen Receptor Signaling in human mouse rat

    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PELP1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PELP1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for PELP1 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pelp11 , 5 proline, glutamic acid and leucine rich protein 11, 5 85.11(n)1
    87.91(a)1
      11 (42.99 cM)5
    752731  NM_029231.41  NP_083507.31 
     703928835 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 7)
    Uncharacterized protein
    (see all 7)
    36(a)
    29(a)
    (see all 7)
    possible ortholog
    possible ortholog
    (see all 7)
    3(98709053-98710821)
    GL343591.1(231756-232200)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.209392 Xenopus laevis transcribed sequence with weak similarity more 82.19(n)    BU152760.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AI544939.12   -- 74.39(n)   322664  AI544939.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG332171 CG33217 34.55(n)
    20.68(a)
      2768951  NM_206425.2  NP_996147.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes NAB36
    Single stranded RNA binding protein; subunit of Nr...
    4(a)
    1 → many
    XVI(185317-187725)


    ENSEMBL Gene Tree for PELP1 (if available)
    TreeFam Gene Tree for PELP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/986 SNPs in PELP1 are shown (see all 986)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1426123941,2
    --4574182(+) ACTACA/GGACAC 2 -- ds5001 int10--------
    rs1822198151,2
    --4574273(+) TTCCAC/TAGACT 2 -- ds5001 int10--------
    rs1476174741,2
    --4574329(+) CATGCA/GTGTGG 2 -- ds5001 int10--------
    rs1846367321,2
    --4574334(+) GTGTGA/GGCATG 2 -- ds5001 int10--------
    rs283614611,2
    C,F--4574466(+) TGCACG/ATTTAG 2 -- ds5001 int13Minor allele frequency- A:0.09WA NA 240
    rs1149594651,2
    C,F--4574523(+) GGGACA/GGTCCA 2 -- ds5001 int11Minor allele frequency- G:0.02WA 118
    rs1883048491,2
    --4574691(+) CTAAGC/GACATA 2 -- ut31 nc-transcript-variant0--------
    rs1128218441,2
    F--4574711(+) GAAACG/AAAGAG 2 -- ut31 nc-transcript-variant1Minor allele frequency- A:0.50CSA 2
    rs1808207521,2
    --4574714(+) ACAAAC/GAGTGG 2 -- ut31 nc-transcript-variant0--------
    rs94361,2,4
    C,F,O,H--4574751(-) CTCCCA/TCAGAG 3 T S mis1 ese315Minor allele frequency- T:0.15MN NS EA NA EU 1975

    HapMap Linkage Disequilibrium report for PELP1 (4574679 - 4607632 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for PELP1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv833346CNV Loss17160897

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing PELP1
    DNA2.0 Custom Variant and Variant Library Synthesis for PELP1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609455    OMIM disorders: --

    15 diseases for PELP1:    About MalaCards
    pasteurellosis    mn1    breast cancer susceptibility    sporadic breast cancer
    breast cancer    retinoblastoma    pancreatic cancer    pancreatitis
    colorectal cancer    thyroiditis    melanoma    prostate cancer
    lung cancer    adenocarcinoma    prostatitis


    PELP1 for disorders           About GeneDecksing

    5 Novoseek inferred disease relationships for PELP1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    breast cancer 45 17 12682072 (2), 16140940 (2), 18079323 (1), 19456271 (1) (see all 11)
    breast carcinoma 25.8 2 17545633 (1)
    necrosis 0 1 16505095 (1)
    tumors 0 44 16021574 (5), 18079323 (3), 16505095 (3), 17545633 (2) (see all 10)
    cancer 0 13 15374949 (2), 17545633 (2), 11481323 (1), 17804729 (1) (see all 5)

    Genetic Association Database (GAD): PELP1
    Human Genome Epidemiology (HuGE) Navigator: PELP1 (2 documents)

    Export disorders for PELP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PELP1 gene, integrated from 9 sources (see all 175):
    (articles sorted by number of sources associating them with PELP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and characterization of PELP1, a novel human coregulator of estrogen receptor alpha. (PubMed id 11481323)1, 2, 3, 9 Vadlamudi R.K....Kumar R. (2001)
    2. Functional interactions between the estrogen receptor coactivator PELP1/MNAR and retinoblastoma protein. (PubMed id 12682072)1, 2, 3, 9 Balasenthil S. and Vadlamudi R.K. (2003)
    3. Potential role of a novel transcriptional coactivator PELP1 in histone H1 displacement in cancer cells. (PubMed id 15374949)1, 2, 9 Nair S.S....Vadlamudi R.K. (2004)
    4. Functional implications of altered subcellular localization of PELP1 in breast cancer cells. (PubMed id 16140940)1, 2, 9 Vadlamudi R.K.... Kumar R. (2005)
    5. 9-cis-retinoic acid up-regulates expression of transcriptional coregulator PELP1, a novel coactivator of the retinoid X receptor alpha pathway. (PubMed id 16574651)1, 2, 9 Singh R.R.... Kumar R. (2006)
    6. Characterization of the interactions of estrogen receptor and MNAR in the activation of cSrc. (PubMed id 14963108)1, 2, 9 Barletta F....Cheskis B.J. (2004)
    7. Evaluating new candidate SNPs as low penetrance risk factors in sporadic breast cancer: a two-stage Spanish case-control study. (PubMed id 18950845)1, 4 Vega A....Carracedo A. (2009)
    8. Hepatocyte growth factor-regulated tyrosine kinase substrate (HRS) interacts with PELP1 and activates MAPK. (PubMed id 16352611)1, 2 Rayala S.K.... Kumar R. (2006)
    9. NXP-2 association with SUMO-2 depends on lysines required for transcriptional repression. (PubMed id 16567619)1, 2 Rosendorff A.... Gill G. (2006)
    10. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 27043 HGNC: 30134 AceView: PELP1 Ensembl:ENSG00000141456 euGenes: HUgn27043
    ECgene: PELP1 H-InvDB: PELP1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PELP1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PELP1 gene:
    Search GeneIP for patents involving PELP1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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